[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy].

The case of a newborn boy with ichthyosiform erythroderma, asymmetrical shortening of the femur and sectorial cataract is reported. The hyperkeratotic areas cleared within 2 months, resulting in follicular atrophoderma. The clinical findings and course of the disease, and also the histological and ultrastructural features, indicate an X-linked dominant chondrodysplasia punctata (Happle).

Encephalocele, radial defects, cardiac, gastrointestinal, anal, and renal anomalies: a new multiple congenital anomaly (MCA) syndrome?

We present two unrelated female patients with a complex pattern of congenital malformations including encephalocele, oesophageal atresia, abnormal lung lobation, congenital heart defects, anal anomalies, liver, spleen and radial defects. Clinical variability between the two cases can be seen as a result of variable expression. The pattern of anomalies in these two unrelated patients suggest that they may represent the same, as yet unknown, syndrome.

[Diagnosis of fetal virus infections by in situ hybridization].

Non-radioactive in situ hybridization of formalin-fixed paraffin-embedded placental and foetal tissue, using virus-specific DNA or RNA probes, may be helpful for the diagnosis of foetal virus infection causing foetal hydrops, granulomatous placentitis and abortion. We present four cases of intrauterine CMV-, Parvo-B19- and Varicella-Zoster virus infection, in which this diagnostic method established detection of the virus.

Molecular heterogeneity of the fragile X syndrome.

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation than affected individuals. We have cloned the region in cosmids and defined the area containing the amplified sequence.

Early prenatal diagnosis of the fragile site at Xq27.3 associated with Martin-Bell syndrome.

Early prenatal diagnosis of the fragile X was attempted in 44 pregnancies, including one twin pregnancy at risk of Martin-Bell (MB) syndrome. The sex ratio was 24M:21F. The fragile site was reproducibly demonstrated in cultured chorionic villus (CV) cells in eight male and five female fetuses.